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TERC Deficiency

MedGen UID:
925674
Concept ID:
C4288142
Disease or Syndrome

Definition

A condition of decreased or absent presence of telomerase RNA component. Deficiency of telomerase RNA component is associated with autosomal dominant dyskeratosis congenita 1, telomere-related pulmonary fibrosis, and bone marrow failure 2. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTERC Deficiency

Recent clinical studies

Etiology

Suelves N, Saleki S, Ibrahim T, Palomares D, Moonen S, Koper MJ, Vrancx C, Vadukul DM, Papadopoulos N, Viceconte N, Claude E, Vandenberghe R, von Arnim CAF, Constantinescu SN, Thal DR, Decottignies A, Kienlen-Campard P
Acta Neuropathol Commun 2023 May 17;11(1):82. doi: 10.1186/s40478-023-01578-x. PMID: 37198698Free PMC Article
Bluteau O, Sebert M, Leblanc T, Peffault de Latour R, Quentin S, Lainey E, Hernandez L, Dalle JH, Sicre de Fontbrune F, Lengline E, Itzykson R, Clappier E, Boissel N, Vasquez N, Da Costa M, Masliah-Planchon J, Cuccuini W, Raimbault A, De Jaegere L, Adès L, Fenaux P, Maury S, Schmitt C, Muller M, Domenech C, Blin N, Bruno B, Pellier I, Hunault M, Blanche S, Petit A, Leverger G, Michel G, Bertrand Y, Baruchel A, Socié G, Soulier J
Blood 2018 Feb 15;131(7):717-732. Epub 2017 Nov 16 doi: 10.1182/blood-2017-09-806489. PMID: 29146883
Donaires FS, Scatena NF, Alves-Paiva RM, Podlevsky JD, Logeswaran D, Santana BA, Teixeira AC, Chen JJ, Calado RT, Martinelli ALC
PLoS One 2017;12(8):e0183287. Epub 2017 Aug 16 doi: 10.1371/journal.pone.0183287. PMID: 28813500Free PMC Article
Brennan TA, Egan KP, Lindborg CM, Chen Q, Sweetwyne MT, Hankenson KD, Xie SX, Johnson FB, Pignolo RJ
Dis Model Mech 2014 May;7(5):583-92. Epub 2014 Mar 13 doi: 10.1242/dmm.014928. PMID: 24626990Free PMC Article
Gramatges MM, Bertuch AA
Transl Res 2013 Dec;162(6):353-63. Epub 2013 Jun 1 doi: 10.1016/j.trsl.2013.05.003. PMID: 23732052Free PMC Article

Diagnosis

Gaysinskaya V, Stanley SE, Adam S, Armanios M
Chest 2020 Dec;158(6):2449-2457. Epub 2020 Jul 22 doi: 10.1016/j.chest.2020.07.025. PMID: 32710892Free PMC Article
Bluteau O, Sebert M, Leblanc T, Peffault de Latour R, Quentin S, Lainey E, Hernandez L, Dalle JH, Sicre de Fontbrune F, Lengline E, Itzykson R, Clappier E, Boissel N, Vasquez N, Da Costa M, Masliah-Planchon J, Cuccuini W, Raimbault A, De Jaegere L, Adès L, Fenaux P, Maury S, Schmitt C, Muller M, Domenech C, Blin N, Bruno B, Pellier I, Hunault M, Blanche S, Petit A, Leverger G, Michel G, Bertrand Y, Baruchel A, Socié G, Soulier J
Blood 2018 Feb 15;131(7):717-732. Epub 2017 Nov 16 doi: 10.1182/blood-2017-09-806489. PMID: 29146883
Fernandez BA, Fox G, Bhatia R, Sala E, Noble B, Denic N, Fernandez D, Duguid N, Dohey A, Kamel F, Edwards L, Mahoney K, Stuckless S, Parfrey PS, Woods MO
Respir Res 2012 Aug 1;13(1):64. doi: 10.1186/1465-9921-13-64. PMID: 22853774Free PMC Article
Calado RT, Young NS
Blood 2008 May 1;111(9):4446-55. Epub 2008 Jan 31 doi: 10.1182/blood-2007-08-019729. PMID: 18239083Free PMC Article
Lee J, Sung YH, Cheong C, Choi YS, Jeon HK, Sun W, Hahn WC, Ishikawa F, Lee HW
Oncogene 2008 Jun 12;27(26):3754-60. Epub 2008 Jan 28 doi: 10.1038/sj.onc.1211037. PMID: 18223679

Therapy

Gaysinskaya V, Stanley SE, Adam S, Armanios M
Chest 2020 Dec;158(6):2449-2457. Epub 2020 Jul 22 doi: 10.1016/j.chest.2020.07.025. PMID: 32710892Free PMC Article
Bruedigam C, Bagger FO, Heidel FH, Paine Kuhn C, Guignes S, Song A, Austin R, Vu T, Lee E, Riyat S, Moore AS, Lock RB, Bullinger L, Hill GR, Armstrong SA, Williams DA, Lane SW
Cell Stem Cell 2014 Dec 4;15(6):775-90. doi: 10.1016/j.stem.2014.11.010. PMID: 25479751Free PMC Article
Liu T, Ullenbruch M, Young Choi Y, Yu H, Ding L, Xaubet A, Pereda J, Feghali-Bostwick CA, Bitterman PB, Henke CA, Pardo A, Selman M, Phan SH
Am J Respir Cell Mol Biol 2013 Aug;49(2):260-8. doi: 10.1165/rcmb.2012-0514OC. PMID: 23526226Free PMC Article
Calado RT, Graf SA, Wilkerson KL, Kajigaya S, Ancliff PJ, Dror Y, Chanock SJ, Lansdorp PM, Young NS
Blood 2007 Aug 15;110(4):1141-6. Epub 2007 May 3 doi: 10.1182/blood-2007-03-080044. PMID: 17478638Free PMC Article
Mathon NF, Lloyd AC
Nat Rev Cancer 2001 Dec;1(3):203-13. doi: 10.1038/35106045. PMID: 11902575

Prognosis

Himes RW, Chiou EH, Queliza K, Shouval DS, Somech R, Agarwal S, Jajoo K, Ziegler DS, Kratz CP, Huang J, Lucas TL, Myers KC, Nelson AS, DiNardo CD, Alter BP, Giri N, Khincha PP, McReynolds LJ, Dufour C, Pierri F, Goldman FD, Sherif Y, Savage SA, Miloh T, Bertuch AA
J Pediatr 2021 Mar;230:55-61.e4. Epub 2020 Sep 21 doi: 10.1016/j.jpeds.2020.09.038. PMID: 32971146
Schildhorn C, Jacobi C, Weissbrodt A, Hermstedt C, Westhoff JH, Hömme M, Bhayadia R, Gretz N, Falk CS, Schmitt R, Bröcker V, Kränzlin B, Melk A
Mech Ageing Dev 2015 Sep;150:65-73. Epub 2015 Aug 12 doi: 10.1016/j.mad.2015.08.004. PMID: 26277387
Kannengiesser C, Borie R, Ménard C, Réocreux M, Nitschké P, Gazal S, Mal H, Taillé C, Cadranel J, Nunes H, Valeyre D, Cordier JF, Callebaut I, Boileau C, Cottin V, Grandchamp B, Revy P, Crestani B
Eur Respir J 2015 Aug;46(2):474-85. Epub 2015 May 28 doi: 10.1183/09031936.00040115. PMID: 26022962
Young NS
Hematology 2012 Apr;17 Suppl 1:S18-21. doi: 10.1179/102453312X13336169155132. PMID: 22507770
Egan ED, Collins K
Mol Cell Biol 2010 Jun;30(11):2775-86. Epub 2010 Mar 29 doi: 10.1128/MCB.00151-10. PMID: 20351177Free PMC Article

Clinical prediction guides

Suelves N, Saleki S, Ibrahim T, Palomares D, Moonen S, Koper MJ, Vrancx C, Vadukul DM, Papadopoulos N, Viceconte N, Claude E, Vandenberghe R, von Arnim CAF, Constantinescu SN, Thal DR, Decottignies A, Kienlen-Campard P
Acta Neuropathol Commun 2023 May 17;11(1):82. doi: 10.1186/s40478-023-01578-x. PMID: 37198698Free PMC Article
Schildhorn C, Jacobi C, Weissbrodt A, Hermstedt C, Westhoff JH, Hömme M, Bhayadia R, Gretz N, Falk CS, Schmitt R, Bröcker V, Kränzlin B, Melk A
Mech Ageing Dev 2015 Sep;150:65-73. Epub 2015 Aug 12 doi: 10.1016/j.mad.2015.08.004. PMID: 26277387
Gramatges MM, Bertuch AA
Transl Res 2013 Dec;162(6):353-63. Epub 2013 Jun 1 doi: 10.1016/j.trsl.2013.05.003. PMID: 23732052Free PMC Article
Hukezalie KR, Wong JM
FEBS J 2013 Jul;280(14):3194-204. Epub 2013 May 3 doi: 10.1111/febs.12272. PMID: 23551398
Perona R, Machado-Pinilla R, Manguan C, Carrillo J
Clin Transl Oncol 2009 Nov;11(11):711-4. doi: 10.1007/s12094-009-0432-9. PMID: 19917533

Supplemental Content

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